15 Genetic Diseases

Genetic Diseases (Inherited Diseases) Zou Xiao-bing Department of Pediatrics 3rd Affiliated Hospital Sun Yat-sen University

Great changes in medicine ,[object Object]

The reasons of the changes in medicine ,[object Object],[object Object],[object Object],[object Object]

Genetic diseases are increasing

Reasons ,[object Object],[object Object]

Epidemiology of genetic diseases in China ,[object Object],[object Object]

Basic of genetics ,[object Object],[object Object],[object Object]

Basic of genetics ,[object Object],[object Object],[object Object],[object Object]

Classification of Genetic Diseases ,[object Object],[object Object]

Classification of Genetic Diseases ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Classification of single gene inherited diseases ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Manifestation of genetic diseases ,[object Object],[object Object]

Diagnosis approaches of genetic diseases ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Treatment of Genetic Diseases ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Treatment of some single gene diseases ,[object Object],[object Object],[object Object]

Prevention of genetic diseases ,[object Object],[object Object],[object Object]

DOWN SYNDROME ,[object Object],[object Object],[object Object],[object Object],[object Object]

Manifestation of Down Syndrome ,[object Object],[object Object],[object Object],[object Object]

Classification of Down Syndrome ,[object Object],[object Object],[object Object],[object Object]

Etiology of trisomy 21 Nondisjunction of chromosome #21 in meiosis

Etiology of translocation down syndrome During prophase of meiosis in a parent,there may be a transfer of a portion of one chromosome to another

Etiology of mosaic down syndrome death Develop to a mosaic down syndrome Nondisjunction of zygote during early stage

TURNER SYNDROME ,[object Object],[object Object]

Klinefelter Syndrome ,[object Object],[object Object]

47 XYY Syndrome ,[object Object],[object Object],[object Object]

Phenylketouria (PKU) ,[object Object],[object Object],[object Object],[object Object],[object Object]

Clinical manifestations of PKU ,[object Object],[object Object],[object Object],[object Object],[object Object]

Congenital hypothyroidism ,[object Object],[object Object],[object Object]

Mental retardation and autism-like symptom Long face and big ears

15 Genetic Diseases

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15 Genetic Diseases